Variant report

Variant	rs16948098
Chromosome Location	chr15:44219607-44219608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr15:44219368-44219867	HCT-116	colon:	n/a	n/a
2	FOS	chr15:44219448-44219776	HUVEC	blood vessel:	n/a	chr15:44219608-44219619
3	JUND	chr15:44219531-44219802	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FRMD5	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11853395	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1561458	1.00[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16949992	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs28654093	0.90[EUR][1000 genomes]
rs2918952	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2929275	1.00[CEU][hapmap]
rs2929279	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2930523	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2930524	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4270152	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4321171	0.90[EUR][1000 genomes]
rs481837	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs483800	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs492571	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs545119	0.87[EUR][1000 genomes]
rs56793082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59561000	0.87[EUR][1000 genomes]
rs74009159	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74009160	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8035382	1.00[CEU][hapmap]
rs8035402	1.00[CEU][hapmap]
rs8035689	1.00[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Serum albumin level	23022100	GWAS catalog

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44208800-44222600	Weak transcription	Fetal Brain Female	brain
2	chr15:44211800-44221800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:44211800-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:44212400-44220600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:44212400-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:44213400-44221600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:44213600-44219800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:44214000-44221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:44214000-44224400	Weak transcription	Right Atrium	heart
10	chr15:44214400-44224000	Weak transcription	HSMMtube	muscle
11	chr15:44215800-44221400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:44216400-44220600	Weak transcription	Brain Anterior Caudate	brain
13	chr15:44216600-44219800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:44216600-44222200	Weak transcription	NH-A	brain
15	chr15:44217600-44220200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:44217600-44220600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr15:44217800-44219800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr15:44217800-44219800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr15:44217800-44220800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:44217800-44223200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr15:44217800-44223200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:44217800-44223200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:44218000-44219800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr15:44218000-44219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:44218000-44219800	Enhancers	NHEK	skin
26	chr15:44218000-44220800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr15:44218000-44220800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr15:44218000-44221800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:44218000-44223200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:44218000-44225600	Enhancers	Fetal Heart	heart
31	chr15:44218200-44222200	Weak transcription	NHDF-Ad	bronchial
32	chr15:44218200-44222200	Weak transcription	NHLF	lung
33	chr15:44218400-44222200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:44218600-44220400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:44218600-44228400	Enhancers	Brain Substantia Nigra	brain
36	chr15:44218800-44220800	Weak transcription	Brain Angular Gyrus	brain
37	chr15:44218800-44220800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:44219600-44220200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr15:44219600-44220400	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:44219600-44220600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr15:44219600-44220800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:44219600-44221200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:44219600-44225000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:44219600-44225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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